Familial Hyperlipidemia Screening, Treatment and New Considerations

Shauna Wentzell, Mary Ryan, Vivion Crowley


We present a case of a 47-year-old male who came to the endocrinology department at the request of his GP. He was noted to have elevated lipid levels, twice the normal range. Genetic testing was performed which showed he was heterozygous for familial hypercholesterolemia (FH). His three children subsequently had their lipid levels tested. They all had elevated lipids (cholesterol and LDL) and tested positive for FH. This case highlights the importance of lipid screening in children as the prevalence of FH is 1 in 200, which is higher than previously thought. This has led to the underdiagnosis of FH in both the pediatric and adult population. Often on initial presentation of the disease, irreversible damage has been done increasing the patients morbidity and mortality. With newer drugs being introduced and the persistent push by the National Heart, Lung and Blood Institute Expert Panel towards initiating a child screening protocol, there is hope that this disease will be manageable and less detrimental to those affected.

J Med Cases. 2016;7(7):258-259
doi: https://doi.org/10.14740/jmc2533w


Familial hyperlipidemia; PCSK9 inhibitor; Genetic screening; Lipid

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